ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.2440C>T (p.Arg814Trp)

dbSNP: rs772782772
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672818 SCV000797962 uncertain significance Congenital hyperammonemia, type I 2018-03-06 criteria provided, single submitter clinical testing
Invitae RCV000672818 SCV001225774 pathogenic Congenital hyperammonemia, type I 2023-08-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 814 of the CPS1 protein (p.Arg814Trp). This variant is present in population databases (rs772782772, gnomAD 0.0009%). This missense change has been observed in individuals with CPS1 deficiency (PMID: 21120950, 22173106, 28526534; Invitae). For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CPS1 protein function. ClinVar contains an entry for this variant (Variation ID: 556766).
Baylor Genetics RCV003465519 SCV004214535 pathogenic Pulmonary hypertension, neonatal, susceptibility to 2023-05-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000672818 SCV002076244 likely pathogenic Congenital hyperammonemia, type I 2021-01-28 no assertion criteria provided clinical testing

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